Sam Smith (@scolbysmith)
Activity by Sam Smith
ROCHESTER, Minn. — A Mayo Clinic-led group of researchers has discovered three subgroups of a single type of non-Hodgkin lymphoma that have markedly different survival rates. These subgroups could not be differentiated by routine pathology but only with the aid of novel genetic tests, which the research team recommends giving to all patients with ALK-negative anaplastic large-cell lymphoma (ALCL). Findings are published in the journal Blood.
Journalists: Sound bites with Dr. Feldman are available in the downloads.
Patients whose lymphomas had TP63 rearrangements had only a 17 percent chance of living five years beyond diagnosis, compared to 90 percent of patients whose tumors had DUSP22 rearrangements. A third group of tumors, those with neither rearrangement, was associated with an intermediate survival rate. [...]
ROCHESTER, Minn. ― Recent modifications in recommendations regarding incidental findings (IFs) in genetic testing from the American College of Medical Genetics and Genomics (ACMG) depart from the college’s 2013 recommendations in favor of an individualized approach. Experts in the Bioethics Program of the Mayo Clinic Center for Individualized Medicine published a review of the updated 2014 recommendations in the journal Proceedings.
“The feedback from ACMG members indicated that the 2013 recommendations did not accommodate diverse patient needs,” says Jennifer McCormick, Ph.D., M.P.P., who authored the review.
The 2013 recommendations embraced an all-or-nothing philosophy, which advised patients who did not want to be informed of some, or all, IFs to forgo whole exome or whole genome sequencing (WES/WGS), according to the review. In addition, the college originally instructed that laboratories “actively search” and notify patients of pathogenic variants in genes, which raised controversy regarding patient rights.
With the 2014 recommendations, patients have more autonomy to customize their WES/WGS results based on their comfort level with knowledge, other than the original reason to seek genetic testing, says Dr. McCormick.
"This is an important discussion, and the move toward greater autonomy is good for everyone ― both patients and physicians," says Dr. McCormick. "Medicine in general is moving toward more patient autonomy and shared decision making. Genomics and individualized medicine happen to be the starkest and least well-defined examples of this trend ― we have no best practices yet."
Much genomic analysis is meant to aid the patient in making medical decisions, sometimes in the distant future, and there are often far-reaching implications for family members, say Dr. McCormick and her co-authors. These factors combine to make this type of testing very personal, especially regarding incidental findings. For example, patients can decide before testing to filter their results for only one part of their genome. This step is important because it differentiates between single-gene testing and WES/WGS. Where single-gene testing is selective, whole exome/genome sequencing is comprehensive. [...]
ROCHESTER, Minn., and SAN FRANCISCO — The Mayo Clinic Center for Individualized Medicine and Whole Biome today announced a collaboration to develop microbiome targeted diagnostic testing, beginning in Women’s Health, with a focus on preterm labor. Preterm birth is the most common cause of infant death and is the leading cause of long-term disability in children, according to the National Institutes of Health. Many preterm births may be delayed or prevented with microbiome-based testing and intervention, according to Mayo Clinic experts.
“Understanding the microbiome, and translating that understanding into enhanced patient care is a major goal within the Center for Individualized Medicine,” says Heidi Nelson, M.D., director of the center’s Microbiome Program. “Our early work suggests the microbiome may play a significant role in triggering preterm labor, and we are excited to take these early results into clinical trials with Whole Biome’s analytics platform.”
“This collaboration is bringing together the clinical expertise of Mayo Clinic with our innovative diagnostic tools,” says Colleen Cutcliffe, CEO of Whole Biome. “Together, we plan to transform affordable and detailed microbiome information into tools that will improve patient health and their lives.”
Whole Biome’s Complete Biome Test is able to generate microbiome profiles with strain-level resolution at a low cost, enabling researchers and physicians to more rapidly conduct large-scale studies and produce effective microbiome diagnostics to help predict, treat and prevent life-threatening issues. [...]
ROCHESTER, Minn. — Mayo Clinic announces the launch of CANCP, a new gene panel cancer test to help tailor chemotherapy to the individual patient based on the unique genomic signature of the patient’s tumor. CANCP, an abbreviation for Solid Tumor Targeted Cancer Gene Panel by Next-Generation Sequencing, scans specific regions in 50 genes known to affect tumor growth and response to chemotherapy. The test is now available to Mayo Clinic patients and to providers worldwide through Mayo Medical Laboratories.
“Every patient’s cancer is different, and oncology is moving away from treating cancer based on its location in the body in favor of selecting the best medication for the individual patient based on molecular changes in the tumor,” says Axel Grothey, M.D., a Mayo Clinic oncologist who orders CANCP on selected tumors. “This test helps providers identify such molecular changes without infusing irrelevant details from genes that we know will not affect our choice of medications.” [...]
ROCHESTER, Minn. — Friday, April 25, is National DNA Day, the date which commemorates completion of the Human Genome Project, the national effort to identify and decode all 6 billion letters in human DNA. Since that time, medical researchers and practitioners have found new ways to apply genomics for everyone who needs healing, and thanks to staggering technological advancements and next-generation sequencing, the cost to sequence a patient’s genome has decreased from $3 billion for the first human genome in 2003 to approximately $1,500.
MEDIA: Gianrico Farrugia, M.D., director of the Mayo Clinic Center for Individualized Medicine, is available for interviews and background about the future of genomic medicine, as well as information about the latest practices and transformative clinical trials. To interview Dr. Farrugia contact Sam Smith, Mayo Clinic Public Affairs, 507-284-5005, firstname.lastname@example.org
Watch video on genome sequencing:
ROCHESTER, Minn. — It has been 1.5 years since Mayo Clinic opened the world’s first integrated multidisciplinary genomics service, the Individualized Medicine Clinic, which uses genomics and next-generation sequencing technologies to personalize treatments for patients with advanced cancer and complex diagnoses. In a special issue of the American Journal of Medical Genetics Part C, “Implementation of Genomic Medicine,” developers of the Individualized Medicine Clinic report the clinic’s structure and share lessons learned in everything from efficacy of genomics in patient care to struggles with insurance reimbursement and ethical dilemmas.
Konstantinos Lazaridis, M.D., a Mayo Clinic hepatologist and director of the Individualized Medicine Clinic, says the clinic is a natural extension of Mayo’s commitment to putting the needs of the patient first and that leaders in the Mayo Clinic Center for Individualized Medicine saw this opportunity as an imperative. Since opening the clinic, more than 30 percent of patients on a diagnostic odyssey have received answers through whole-exome sequencing.
“We now have the capability to understand cancer and diagnostic odyssey cases at their most fundamental level,” says Dr. Lazaridis. “And while we had many hurdles to overcome in designing and launching this clinic, we continue to improve our services, and that’s what matters to people who need our help.” [...]
ROCHESTER, Minn. — Researchers from the Mayo Clinic Center for Individualized Medicine will present results of three different studies evaluating implications and feasibility of genome sequencing at the ACMG Annual Clinical Genetics Meeting this week in Nashville, Tenn. Presenters are available for interviews at the conference or remote interviews by telephone. To schedule an interview, please contact Sam Smith, Mayo Clinic public affairs specialist, at 507-284-5005 or email@example.com.
Richard Sharp, Ph.D., director of the Bioethics Program in the Mayo Clinic Center for Individualized Medicine, also will participate on Saturday, March 30, in a panel discussion entitled “Duty to Recontact” in the Genomics Era: Interdisciplinary Perspectives and Open Forum. “Duty to Recontact” addresses providers’ obligations to patients who have undergone previous genetic testing, given the growing complexities of genetic/genomic medicine and the potential for new findings in old tests. Dr. Sharp is an advisor to the National Institutes of Health, the Institute of Medicine and the Environmental Protection Agency. He can discuss the ethical, legal and social implications of integrating genomics technologies into patient care. [...]
ROCHESTER, Minn. — Feb. 24, 2014 — Mayo Clinic researchers have fashioned a new key to unlocking the secrets of the human genome. The Binary Indexing Mapping Algorithm, version 3 (BIMA V3) is a freely available computer algorithm that identifies alterations in tumor genomes up to 20 times faster and with 25 percent greater accuracy than other popular genomic alignment programs. BIMA results are published this month in the journal Bioinformatics.
Journalists: Sound bites with Dr. Vasmatzis are available in the downloads.
BIMA is a next-generation sequencing mapping and alignment algorithm, customized to process mate pair library sequencing. Mate pair sequencing is a comprehensive and cost-effective method for detecting changes throughout the entire genome.
“BIMA allows us to evaluate tumor genomes in a fraction of the time it takes many popular technologies,” says George Vasmatzis, Ph.D., a Mayo Clinic molecular biologist, director of the Biomarker Discovery Program in the Mayo Clinic Center for Individualized Medicine, and senior author of the paper. “We believe this tool will lead to a better understanding of tumor genomics, and ultimately better therapy for patients with cancer.” [...]